Abstract

The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients
correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified.
We have previously shown that it is possible to differentiate “atypical diabetic patients” based on genotyping the HLA.
In this work we show that the analysis of non-HLA related to type 1 diabetes in the INS-VNTR, SNP rs689, and rs3842753 improves
the identification of these patients. We genotyped 913 individuals comprising controls from the general population and “classic”
and “atypical” diabetic patients. We compared the distribution of these loci and analyzed linkage disequilibrium. The haplotype was
in LD for all the SNPs that were evaluated. Regarding their association with the disease, the haplotype IAC was associated with
type 1 (odds 2.60, 1.82–3.72, CI 95%) and “atypical diabetes”
(odds 1.50, 1.01–2.23, CI 95%), whereas we did not observe an
association with type 2 diabetes. Therefore, our results confirm that atypical diabetes is a different entity of the disease where the patient presents with a
genetic background of T1D and a T2D phenotype, findings that are likely to be relevant for patient diagnosis and management in the clinic.